Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01375:Pfn3'

78689

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pfn3

Ensembl Gene

ENSMUSG00000044444

Gene Name

profilin 3

Synonyms

1700012P12Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01375

Quality Score

Status

Chromosome

Chromosomal Location

55562501-55563045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55562641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 113 (R113S)

Ref Sequence

ENSEMBL: ENSMUSP00000054053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021948] [ENSMUST00000054146] [ENSMUST00000057167] [ENSMUST00000170921] [ENSMUST00000224925] [ENSMUST00000225259]

AlphaFold

Q9DAD6

Predicted Effect

probably benign
Transcript: ENSMUST00000021948

SMART Domains

Protein: ENSMUSP00000021948
Gene: ENSMUSG00000021492

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
FN2	40	88	4.3e-24	SMART
EGF	97	131	4.22e-4	SMART
FN1	135	175	2.4e-13	SMART
EGF	177	210	3.94e-4	SMART
KR	215	297	6.88e-27	SMART
low complexity region	302	320	N/A	INTRINSIC
Tryp_SPc	354	591	7.74e-90	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054146
AA Change: R113S

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054053
Gene: ENSMUSG00000044444
AA Change: R113S

Domain	Start	End	E-Value	Type
Pfam:Profilin	3	132	7.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057167

SMART Domains

Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490

Domain	Start	End	E-Value	Type
Pfam:Na_Pi_cotrans	113	256	7.4e-28	PFAM
Pfam:Na_Pi_cotrans	359	549	2.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170921

SMART Domains

Protein: ENSMUSP00000125771
Gene: ENSMUSG00000021492

Domain	Start	End	E-Value	Type
Tryp_SPc	2	137	3.4e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224043

Predicted Effect

probably benign
Transcript: ENSMUST00000224925

Predicted Effect

probably benign
Transcript: ENSMUST00000225259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225538

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	C	T	9: 69,390,301 (GRCm39)	R68*	probably null	Het
Apc	C	T	18: 34,446,707 (GRCm39)	S1167L	probably damaging	Het
Aqp2	A	G	15: 99,479,983 (GRCm39)	T149A	possibly damaging	Het
Asb8	T	C	15: 98,039,190 (GRCm39)	E70G	probably damaging	Het
Carmil1	T	C	13: 24,278,454 (GRCm39)	I172V	possibly damaging	Het
Cd38	A	G	5: 44,060,939 (GRCm39)	M172V	probably benign	Het
Dync2i1	G	T	12: 116,193,296 (GRCm39)	A552E	possibly damaging	Het
Dyrk2	A	G	10: 118,696,592 (GRCm39)	V222A	probably damaging	Het
Ephb6	T	A	6: 41,592,845 (GRCm39)		probably benign	Het
Fbxo15	T	C	18: 84,976,404 (GRCm39)	S48P	possibly damaging	Het
Gsdma3	T	C	11: 98,520,767 (GRCm39)		probably null	Het
H2bl1	A	G	13: 99,120,650 (GRCm39)		probably benign	Het
Htr1d	A	G	4: 136,170,484 (GRCm39)	T238A	probably benign	Het
Kcnh3	G	A	15: 99,124,874 (GRCm39)	W108*	probably null	Het
Kdsr	A	T	1: 106,655,424 (GRCm39)	Y272N	probably benign	Het
Lrp2	A	G	2: 69,308,910 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,067,200 (GRCm39)	V747M	probably damaging	Het
Or10g3	A	G	14: 52,609,865 (GRCm39)	I215T	probably damaging	Het
Or4a67	A	G	2: 88,597,810 (GRCm39)	V283A	probably benign	Het
Pik3r4	T	C	9: 105,521,803 (GRCm39)	I123T	possibly damaging	Het
Plec	A	T	15: 76,060,640 (GRCm39)	I3121N	probably damaging	Het
Prepl	C	T	17: 85,379,419 (GRCm39)	G336D	possibly damaging	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Prps1l1	A	G	12: 35,035,631 (GRCm39)	T249A	possibly damaging	Het
Rptor	T	A	11: 119,787,262 (GRCm39)	F1276I	possibly damaging	Het
Serpina3f	G	A	12: 104,186,735 (GRCm39)	V434I	unknown	Het
Slc25a12	T	C	2: 71,138,394 (GRCm39)		probably benign	Het
Slc4a4	T	C	5: 89,327,593 (GRCm39)	C642R	probably damaging	Het
Slit2	C	T	5: 48,439,056 (GRCm39)		probably benign	Het
Tasor	A	G	14: 27,162,120 (GRCm39)	R159G	probably damaging	Het
Tgfbr3	A	G	5: 107,284,837 (GRCm39)	V604A	probably benign	Het
Tnfrsf1b	T	C	4: 144,951,986 (GRCm39)	Y126C	probably damaging	Het
Traf4	T	C	11: 78,050,908 (GRCm39)	N416S	probably benign	Het
Trappc10	A	G	10: 78,024,733 (GRCm39)	I1132T	possibly damaging	Het
Vps8	T	A	16: 21,378,122 (GRCm39)	Y642*	probably null	Het

Other mutations in Pfn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02126:Pfn3	APN	13	55,562,699 (GRCm39)	missense	possibly damaging	0.92
R1490:Pfn3	UTSW	13	55,562,732 (GRCm39)	missense	probably damaging	1.00
R5718:Pfn3	UTSW	13	55,562,853 (GRCm39)	missense	probably benign	0.25
R7765:Pfn3	UTSW	13	55,562,900 (GRCm39)	missense	probably damaging	0.97
R9789:Pfn3	UTSW	13	55,562,900 (GRCm39)	missense	possibly damaging	0.91

Posted On

2013-11-05